Varaico: Literature-Extracted Genetic Variants

JAK2

5,910 papers

RefSeq Summary

This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required ...

Pfam Domains

FERM_F1aa 39–134UCSCFERM F1 ubiquitin-like domain

FERM_F2aa 142–261UCSCFERM F2 acyl-CoA binding protein-like domain

Jak1_Phlaa 299–381UCSCJak1 pleckstrin homology-like domain

SH2_1aa 398–501UCSCSH2 domain

PK_Tyr_Ser-Thraa 545–805UCSCProtein tyrosine and serine/threonine kinase

PK_Tyr_Ser-Thraa 849–1123UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

Janus kinase 2

HGNC Alias Symbol

JTK10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004972.4

p.R374_L383delFs

c.1121_1148del28

Surrounding Variants

2 papers

NM_004972.4

p.R374*

c.1120A>T

1 paper

NM_004972.4

p.R374_L375Fs

c.1120_1125delinsTGCGTFs

1 paper

NM_004972.4

p.R374_A377Fs

c.1120_1131delinsTGCGTFs

2 papers

NM_004972.4

p.R374K

c.1121G>A

3 papers

NM_004972.4

p.R374_L375delFs

c.1122_1125del4

1 paper

NM_004972.4

p.R374_H380delFs

c.1122_1140del19

1 paper

NM_004972.4

p.R374_H380delFs

c.1120_1138del19

1 paper

NM_004972.4

p.Y373C

c.1118A>G

1 paper

NM_004972.4

p.Y373F

c.1118A>T

1 paper

NM_004972.4

p.R374_H381Fs

c.1122_1141delinsAFs

2 papers

NM_004972.4

p.R374_L375delFs

c.1120_1123del4

1 paper

NM_004972.4

p.Y373_A379delFs

c.1118_1136del19